Revel Score:
ENST00000207549 (MANE Select)
0.599
ENST00000412096
0.599
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001647 (NFE)
Exomes Max Group AF
0.00001748 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75828889C>T , CM000679.2:g.75828889C>T | GRCh38 |
| NC_000017.10:g.73824970C>T , CM000679.1:g.73824970C>T | GRCh37 |
| NC_000017.9:g.71336565C>T | NCBI36 |
| NG_007266.1:g.20829G>A , LRG_122:g.20829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699510.1:c.1915G>A | ENSP00000514405.1:p.Glu639Lys | |
| ENST00000207549.9:c.3049G>A MANE Select | ENSP00000207549.3:p.Glu1017Lys | |
| ENST00000207549.8:c.3049G>A | ENSP00000207549.3:p.Glu1017Lys | |
| ENST00000412096.6:c.3049G>A | ENSP00000388093.1:p.Glu1017Lys | |
| ENST00000586519.1:c.171G>A | ENSP00000466149.1:p.Ala57= | |
| ENST00000589670.5:c.215G>A | ||
| NM_199242.2:c.3049G>A , LRG_122t1:c.3049G>A | NP_954712.1:p.Glu1017Lys | |
| XM_011524504.1:c.3118G>A | XP_011522806.1:p.Glu1040Lys | |
| XM_011524505.1:c.3118G>A | XP_011522807.1:p.Glu1040Lys | |
| XM_011524506.1:c.3115G>A | XP_011522808.1:p.Glu1039Lys | |
| XM_011524507.1:c.2509G>A | XP_011522809.1:p.Glu837Lys | |
| XM_011524508.1:c.2509G>A | XP_011522810.1:p.Glu837Lys | |
| XM_011524504.2:c.3118G>A | XP_011522806.1:p.Glu1040Lys | |
| XM_011524507.2:c.2509G>A | XP_011522809.1:p.Glu837Lys | |
| XM_024450640.1:c.2509G>A | XP_024306408.1:p.Glu837Lys | |
| NM_199242.3:c.3049G>A MANE Select | NP_954712.1:p.Glu1017Lys |